Variant report

Variant	rs476632
Chromosome Location	chr6:44214325-44214326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44213627-44216136	GM19099	blood:	n/a	n/a
2	RCOR1	chr6:44213907-44215751	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:44213918-44217034	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr6:44213708-44215697	SK-N-SH	brain:	n/a	chr6:44215253-44215260 chr6:44215637-44215646 chr6:44215594-44215610 chr6:44214210-44214219
5	POLR2A	chr6:44213387-44225291	U87	brain:	n/a	n/a
6	MYC	chr6:44213959-44215748	Hela-S3	cervix:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
7	EP300	chr6:44212956-44216963	SK-N-SH	brain:	n/a	chr6:44215253-44215260 chr6:44215637-44215646 chr6:44215594-44215610 chr6:44214210-44214219 chr6:44216157-44216171
8	GTF2F1	chr6:44213948-44216143	K562	blood:	n/a	n/a
9	POLR2A	chr6:44213586-44216006	HUVEC	blood vessel:	n/a	n/a
10	SIN3AK20	chr6:44214144-44214409	A549	lung:	n/a	n/a
11	BCL3	chr6:44213957-44215506	A549	lung:	n/a	chr6:44214124-44214137 chr6:44214123-44214136 chr6:44214211-44214220 chr6:44215252-44215261 chr6:44214214-44214223 chr6:44215216-44215229
12	MAZ	chr6:44213807-44215837	Hela-S3	cervix:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
13	MAZ	chr6:44213723-44215921	K562	blood:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
14	TBP	chr6:44213853-44215566	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:44214162-44225788	Hela-S3	cervix:	n/a	n/a
16	MAX	chr6:44213504-44215807	H1-hESC	embryonic stem cell:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
17	POLR2A	chr6:44213384-44225291	U87	brain:	n/a	n/a
18	MYC	chr6:44214049-44215833	K562	blood:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
19	CREB1	chr6:44213691-44215933	K562	blood:	n/a	n/a
20	TCF7L2	chr6:44214072-44215080	PANC-1	pancreas:	n/a	n/a
21	MYC	chr6:44213943-44215867	K562	blood:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
22	TEAD4	chr6:44213920-44215502	ECC-1	luminal epithelium:	n/a	n/a
23	HSF1	chr6:44213910-44215764	HepG2	liver:	n/a	chr6:44215568-44215580 chr6:44215573-44215585 chr6:44215510-44215522 chr6:44215515-44215527 chr6:44215573-44215585 chr6:44214187-44214199 chr6:44215567-44215583 chr6:44215573-44215585 chr6:44215515-44215527 chr6:44214185-44214200 chr6:44214174-44214190 chr6:44215514-44215530 chr6:44215463-44215475 chr6:44215568-44215580 chr6:44215563-44215575 chr6:44215568-44215580 chr6:44215563-44215575 chr6:44215463-44215475
24	TAF1	chr6:44213371-44215814	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:44214205-44227205	GM12891	blood:	n/a	n/a
26	SMC3	chr6:44213948-44214384	Hela-S3	cervix:	n/a	n/a
27	FOXA1	chr6:44213748-44214367	HepG2	liver:	n/a	n/a
28	TEAD4	chr6:44213700-44214518	H1-hESC	embryonic stem cell:	n/a	n/a
29	NFATC1	chr6:44213529-44216283	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:44214006-44217220	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr6:44213935-44214637	HUVEC	blood vessel:	n/a	n/a
32	ZBTB33	chr6:44214109-44214470	HepG2	liver:	n/a	chr6:44214322-44214331
33	MXI1	chr6:44214072-44216815	K562	blood:	n/a	n/a
34	MYC	chr6:44213522-44214382	H1-hESC	embryonic stem cell:	n/a	chr6:44214158-44214168
35	TCF3	chr6:44213819-44215047	GM12878	blood:	n/a	n/a
36	ZBTB33	chr6:44214077-44214441	A549	lung:	n/a	chr6:44214322-44214331
37	RCOR1	chr6:44213685-44216124	K562	blood:	n/a	n/a
38	POU2F2	chr6:44213901-44215839	GM12878	blood:	n/a	chr6:44215489-44215501 chr6:44214123-44214135 chr6:44214248-44214260
39	RFX5	chr6:44213954-44215752	Hela-S3	cervix:	n/a	n/a
40	STAT1	chr6:44213687-44215842	GM12878	blood:	n/a	chr6:44214676-44214688 chr6:44215495-44215507 chr6:44215496-44215508 chr6:44215617-44215629 chr6:44213999-44214011
41	HEY1	chr6:44213865-44215979	K562	blood:	n/a	chr6:44214705-44214714
42	NFIC	chr6:44213194-44215093	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:44213514-44215736	ProgFib	skin:	n/a	n/a
44	ZNF263	chr6:44213729-44215833	HEK293-T-REx	kidney:	n/a	chr6:44213766-44213775 chr6:44214000-44214009
45	POLR2A	chr6:44213452-44233528	GM12892	blood:	n/a	n/a
46	CREB1	chr6:44213508-44215896	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr6:44213575-44216066	SK-N-SH	brain:	n/a	chr6:44214262-44214276 chr6:44214681-44214690 chr6:44215706-44215725 chr6:44215212-44215226 chr6:44214506-44214517 chr6:44215231-44215250 chr6:44214249-44214260 chr6:44214122-44214136 chr6:44214215-44214229 chr6:44215233-44215243 chr6:44215232-44215244 chr6:44214256-44214270 chr6:44214212-44214221 chr6:44215708-44215730 chr6:44214252-44214266 chr6:44215215-44215229
48	MAX	chr6:44213562-44215902	MCF-7	breast:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
49	MAX	chr6:44213271-44215937	HCT-116	colon:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
50	MAFK	chr6:44214088-44214998	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:120124400..120125358-chr6:44214219..44214912,2	NB4	blood:
2	chr6:43482819..43485318-chr6:44213615..44215376,2	MCF-7	breast:
3	chr17:43661980..43662535-chr6:44213974..44214611,2	Hela-S3	cervix:
4	chr6:43593505..43599096-chr6:44213646..44217999,9	K562	blood:
5	chr6:44040622..44046991-chr6:44213898..44218144,6	K562	blood:
6	chr6:43596586..43599214-chr6:44212975..44217729,5	K562	blood:
7	chr6:44124294..44127284-chr6:44213791..44216257,3	MCF-7	breast:
8	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
9	chr6:44122736..44127198-chr6:44213713..44218106,8	K562	blood:
10	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
11	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
12	chr17:56402926..56405795-chr6:44213387..44215441,2	K562	blood:
13	chr6:44133200..44145960-chr6:44211718..44220192,28	K562	blood:
14	chr17:62076100..62076600-chr6:44214071..44214878,2	MCF-7	breast:
15	chr20:52790069..52790714-chr6:44214318..44215119,2	HCT-116	colon:
16	chr6:44094685..44097058-chr6:44213813..44216236,2	MCF-7	breast:
17	chr1:1334466..1336653-chr6:44213643..44215550,2	K562	blood:
18	chr17:54911078..54911812-chr6:44214321..44214972,2	HCT-116	colon:
19	chr5:180236324..180238724-chr6:44214143..44216444,2	MCF-7	breast:
20	chr6:44106717..44108316-chr6:44214110..44216405,3	K562	blood:
21	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
22	chr6:44187521..44192952-chr6:44212221..44217106,13	MCF-7	breast:
23	chr6:44194649..44200475-chr6:44213732..44216333,8	MCF-7	breast:
24	chr19:1253163..1253924-chr6:44214171..44214907,2	Hela-S3	cervix:
25	chr6:44213880..44217687-chr6:44354177..44357164,5	K562	blood:
26	chr6:44214289..44217035-chr6:44262196..44266038,3	K562	blood:
27	chr6:44040972..44043900-chr6:44213898..44215544,2	K562	blood:
28	chr6:44100712..44103659-chr6:44213625..44216259,3	K562	blood:
29	chr6:44214120..44215707-chr6:44224252..44225325,5	Hela-S3	cervix:
30	chr6:43738049..43742352-chr6:44213795..44216744,7	K562	blood:
31	chr6:44213758..44215428-chr6:44309293..44311081,2	K562	blood:
32	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:

Variant related genes	Relation type
HSP90AB1	TF binding region
ENSG00000172432	Chromatin interaction
ENSG00000137207	Chromatin interaction
ENSG00000249481	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000224870	Chromatin interaction
ENSG00000167470	Chromatin interaction
ENSG00000155368	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000096401	Chromatin interaction
ENSG00000019186	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000264954	Chromatin interaction
ENSG00000005379	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000131446	Chromatin interaction
ENSG00000221978	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000214226	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000231881	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000137225	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000171453	Chromatin interaction
ENSG00000186132	Chromatin interaction
ENSG00000153933	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10948128	0.98[ASN][1000 genomes]
rs11752427	0.96[ASN][1000 genomes]
rs1875324	0.95[ASN][1000 genomes]
rs2039361	0.96[ASN][1000 genomes]
rs3757283	1.00[ASN][1000 genomes]
rs4714772	0.96[ASN][1000 genomes]
rs523891	0.98[ASN][1000 genomes]
rs575034	0.87[ASN][1000 genomes]
rs9462978	1.00[ASN][1000 genomes]
rs9472236	0.97[ASN][1000 genomes]
rs9472238	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44213000-44214800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:44213200-44214600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:44213200-44214800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr6:44213200-44216000	Active TSS	Colon Smooth Muscle	Colon
5	chr6:44213200-44216000	Bivalent/Poised TSS	HepG2	liver
6	chr6:44213400-44214400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:44213400-44214800	Active TSS	Right Atrium	heart
8	chr6:44213400-44214800	Flanking Active TSS	Dnd41	blood
9	chr6:44213400-44215600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:44213400-44215600	Active TSS	Primary T cells from cord blood	blood
11	chr6:44213400-44216000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:44213400-44216200	Active TSS	Fetal Kidney	kidney
13	chr6:44213400-44216400	Active TSS	Fetal Brain Female	brain
14	chr6:44213400-44216400	Active TSS	Psoas Muscle	Psoas
15	chr6:44213600-44214600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:44213600-44215600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:44213600-44215600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:44213600-44215600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:44213600-44215800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:44213600-44216000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:44213600-44216000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:44213600-44216000	Active TSS	Brain Angular Gyrus	brain
23	chr6:44213600-44216000	Active TSS	Brain Anterior Caudate	brain
24	chr6:44213600-44216000	Active TSS	Brain Cingulate Gyrus	brain
25	chr6:44213600-44216000	Active TSS	Rectal Smooth Muscle	rectum
26	chr6:44213600-44216200	Active TSS	Lung	lung
27	chr6:44213600-44216400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr6:44213600-44216400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:44213600-44216400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:44213600-44216600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:44213600-44216600	Active TSS	Aorta	Aorta
32	chr6:44213600-44216600	Active TSS	Ovary	ovary
33	chr6:44213600-44217000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:44213800-44215400	Active TSS	Fetal Intestine Small	intestine
35	chr6:44213800-44215400	Active TSS	Fetal Stomach	stomach
36	chr6:44213800-44215400	Active TSS	A549	lung
37	chr6:44213800-44215600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr6:44213800-44215600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:44213800-44215600	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr6:44213800-44215600	Active TSS	Brain Hippocampus Middle	brain
41	chr6:44213800-44215800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:44213800-44215800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:44213800-44215800	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr6:44213800-44215800	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr6:44213800-44215800	Active TSS	Fetal Lung	lung
46	chr6:44213800-44215800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:44213800-44215800	Active TSS	Thymus	Thymus
48	chr6:44213800-44215800	Active TSS	Spleen	Spleen
49	chr6:44213800-44215800	Active TSS	GM12878-XiMat	blood
50	chr6:44213800-44215800	Active TSS	K562	blood

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